Study makes case for wider gene testing in bowel cancer

And Seven genes for X-linked

intellectual disability: New mutations on the X chromosome

Biology FoldingTeacher: Lina MartinezLaura Judith Navarrete MoralesMedicine StudentIII Semestrer2015UPB

Traduction includes : RNAm, RNAt, and RNAr.

RNAm Direction 5´ - 3´. amino terminal to carboxyl terminalRNAt at the end 3´ CCA sticks (here amino acids stick).RNAr in the ribosomes the proteins are synthesizedtraduction has 3 steps-initiation-elongation-termination

Splicing mechanismThis process is carried out two steps:First step consists of the excision al the clavagepoint 5´ and the bonding of the nitron 5´ endwith an adenine contained within the intronSecond Step is the excision in 3´ and thesimultaneous exon splicing.

Study makes case for wider gene testing in bowel cancer

Bowel cancer is a disease in which malignantcells are found in the intermediate and longerportion of the large intestine.Begins with the formation of a polyp (bumpthat forms along with any body membrane)benign. The most common complaints are inthe advanced stage of the disease.

Inherited mutations in a well-known group of genes called the mismatch repair genes alone accounted for 11% of familial bowel cancers. Genetic screening to detect defects in these genes has

previously been shown to reduce bowel cancer death rates

Study makes case for wider gene testing in bowel cancer

Study makes case for wider gene testing in bowel cancer

Is necessary identify new cancer genes that couldbe involved in the three quarters of cases where nomutations in known cancer genes could bedetected.This is important because up to a quarter of

patients with bowel cancer who have a familyhistory of the disease could have the causes of theircancer identified through gene testing.

Study makes case for wider gene testing in bowel cancer

"So far, there are 10 gene faultsthat we know are linked toinherited bowel cancer. Peoplewith these gene faults have amuch higher risk of developingthe disease and so are screenedfrom a younger age. This couldpotentially help doctors decidehow best to monitor people forearly signs of bowel cancer andguide their treatment."

Study makes case for wider gene testing in bowel cancer

I think That Such discoveries Promote newways to Understand the cancer. This is soimportant on Because in the future thisinvestigation could be the light for thepeople who have this disease and maybethey find the cure or one way to improvethe quality of life of this people

Seven genes for X-linked intellectual disability: New

mutations on the X chromosome

Autism is a spectrum of disorderscharacterized by severe developmentaldeficit, permanent and profound. Affectingsocialization, communication, imagination,planning and emotional reciprocity, and isevidenced by repetitive or unusualbehaviors.

Seven genes for X-linked intellectual disability: New mutations on the X

chromosome

X-linked intellectual disability is caused by defective genes onthe X chromosome. As males only have one X chromosomeand the disease is passed on in a recessive manner, thedisorder mainly occurs in boys. Women are affected only ifboth their X chromosomes carry the defective genes. Womenwith one healthy and one mutated X chromosome are usuallyhealthy but have a 50% chance of passing the mutated Xchromosome on to their offspring.

Seven genes for X-linked intellectual disability: New mutations on the X

chromosome

The researchers have discoveredchanges in a number of genesthat were already known to berelated to the disorder. Inaddition, they discovered that X-linked intellectual disability canalso be caused by mutations inseven other genes that, untilnow, were not associated withthe disorder.

Seven genes for X-linked intellectual disability: New mutations on the X

chromosome

high-throughput sequencing

This technology allows to sequence alarge number of DNA segmentssimultaneously and to more easilyidentify genetic defects. Using thismethod, the scientists investigated allDNA regions of the X chromosomecontaining protein-relevant information

Seven genes for X-linked intellectual disability: New mutations on the X

chromosome

The investigations in relation tothe autism would offer a clinicalboarding of major efficiency inrelation to the disease, allowingto announce in a biological waythe mainsprings of the autism andhis possible clinical boarding

Early detection of cervical, stomachand colon cancer through regularassessments asymptomaticpopulation, raises awareness in thegeneral population towardsprevention, which can be used todetect and treat cancer at earlystages.

Early detection of cancer greatlyincreases the chances thattreatment be effective . Theprincipal components of earlycancer detection son two:-PROMOTE Education Early diagnosis - screening

It´s important to investigate the regionin which one finds the mutation thatallows the development of the autism,since if this one thinks in a protein that itis important for the development of thebrain, the result is probably a moreserious progression of the disease

The comprehension and the study of the genes involved in the autism would contribute to an early boarding on the disease, allowing the understanding of the proteins involved in the codification of the genes (in the autism) and his relation with diseases as the epilepsy and the schizophrenia

REFERENCES

-Science Daily. (2015).Seven genes for X-linked intellectual disability: New mutations on the X chromosome. http://www.sciencedaily.com/releases/2015/02/150213104713.htm[Consult: February 13, 2015 ]

-Science Daily. (2015). Study makes case for wider gene testing in bowel .http://www.sciencedaily.com/releases/2015/01/150105182452.htm [Consult: February 14, 2014]